Canonical Allele Identifier: PA2580182528
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2448281
ClinVar RCV Id: RCV003181586

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Asp399Asn
CA375450648
NM_001278074.1:c.1195G>A